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Brain and spine MRI findings in children presenting with TMCO1 mutation
Cerebrofaciothoracic dysplasia (CFTD) is a developmental disorder characterized by distinctive craniofacial dysmorphism, global developmental delay, and skeletal anomalies. CTFD is the result of biallelic autosomal recessive loss of function mutations in the transmembrane and coiled-coil domains one...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The British Institute of Radiology.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668268/ https://www.ncbi.nlm.nih.gov/pubmed/36451910 http://dx.doi.org/10.1259/bjrcr.20210253 |